5-113029022-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001085377.2(MCC):āc.2791G>Cā(p.Val931Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0000669 in 1,613,466 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001085377.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MCC | ENST00000408903.7 | c.2791G>C | p.Val931Leu | missense_variant | Exon 18 of 19 | 2 | NM_001085377.2 | ENSP00000386227.3 | ||
MCC | ENST00000302475.9 | c.2221G>C | p.Val741Leu | missense_variant | Exon 16 of 17 | 1 | ENSP00000305617.4 | |||
MCC | ENST00000515367.6 | c.2032G>C | p.Val678Leu | missense_variant | Exon 16 of 17 | 5 | ENSP00000421615.2 |
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152118Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000319 AC: 8AN: 250794Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135552
GnomAD4 exome AF: 0.0000684 AC: 100AN: 1461348Hom.: 0 Cov.: 31 AF XY: 0.0000715 AC XY: 52AN XY: 726970
GnomAD4 genome AF: 0.0000526 AC: 8AN: 152118Hom.: 0 Cov.: 31 AF XY: 0.0000673 AC XY: 5AN XY: 74314
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2791G>C (p.V931L) alteration is located in exon 18 (coding exon 18) of the MCC gene. This alteration results from a G to C substitution at nucleotide position 2791, causing the valine (V) at amino acid position 931 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at